Journal article

Publication year: 2014

Pages: 350-355

Journal: Hormone Research in Paediatrics

Volume number: 81

Issue number: 5

ISSN: 1663-2818

eISSN: 1663-2826

Open access status: Green

DOI Link: https://doi.org/10.1159/000357065

Publisher: Karger Publishers

Abstract: 
Background: Mutations of the CYP17A1 gene cause 17 alpha-hydroxylase deficiency (17OHD) resulting in 46, XY disorder of sex development, hypertension, hypokalemia and absent pubertal development. It is a rare, autosomal recessive form of congenital adrenal hyperplasia (CAH). Patient: We report on a neonate with prenatally determined 46, XY karyotype. At 20 weeks of gestation, lack of development of male external genitalia was noticed. A phenotypically female child was born at 41 weeks of gestation. Results: Postnatal ultrasound revealed testes in both labia majora, an absence of uterus and normal adrenal glands. Steroid hormone analysis in serum revealed low basal levels of cortisol, testosterone and androstenedione in the presence of massively elevated corticosterone at the age of 2 weeks. The urinary steroid profile from spot urine showed excessive excretion of 17-desoxysteroids, decreased glucocorticoid metabolites and absent C19 steroids, thus proving 17OHD. Molecular analysis identified a novel mutation of the CYP17A1 gene: c. 896T> A (p. I299N) in exon 5. Substitution with hydrocortisone was started. The child is raised as a girl and is developing well so far. Conclusion: Herein, we report the unusually early diagnosis of a newborn with the rare CAH form of 17OHD allowing an early start of treatment. (C) 2014 S. Karger AG, Basel

Harvard Citation style: Petri, C., Wudy, S., Riepe, F., Holterhus, P., Siegel, J., Hartmann, M., et al. (2014) 17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene, Hormone Research in Paediatrics, 81(5), pp. 350-355. https://doi.org/10.1159/000357065

APA Citation style: Petri, C., Wudy, S., Riepe, F., Holterhus, P., Siegel, J., Hartmann, M., Kulle, A., Welzel, M., Groetzinger, J., Schild, R., & Heger, S. (2014). 17α-Hydroxylase Deficiency Diagnosed in Early Infancy Caused by a Novel Mutation of the CYP17A1 Gene. Hormone Research in Paediatrics. 81(5), 350-355. https://doi.org/10.1159/000357065